Cystathioninuria

Known as: High urine cystathionine levels 
An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1963-2014
024619632014

Papers overview

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2012
2012
Physiological roles of the transsulfuration pathway have been recognized by its contribution to the synthesis of cytoprotective… (More)
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Highly Cited
2010
Highly Cited
2010
Cysteine is considered a nonessential amino acid in mammals as it is synthesized from methionine via trans-sulfuration. However… (More)
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2005
2005
Mitochondrial depletion syndrome (MDS) refers to a heterogeneous group of mitochondrial disorders characterized by a reduction of… (More)
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2003
2003
Hereditary cystathioninuria (MIM 219500) is presumed to be caused by deficiency of the activity of cystathionine gamma-lyase… (More)
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1989
1989
Secondary cystathioninuria is associated with various pathological conditions (Gjessing, 1963; Gjessing & Mauritzen, 1965; Endres… (More)
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1984
1984
Urinary excretion of cystathionine and dopa metabolites was analyzed in 61 patients with active neuroblastoma before, and at… (More)
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1978
1978
Summary: Optimal conditions are described for measurement of cystathionase activity in long term lymphoid cell lines. In 21… (More)
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1975
1975
Cystathionase activity in a lymphoid cell line extracts from a vitamin B6-responsive patient with cystathioninuria was increased… (More)
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1967
1967
Cystathionine is more readily cleared from the plasma than other amino acids. This is because the amino acid has a very low… (More)
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1965
1965
A homogenate of liver obtained by biopsy from two patients with cystathioninuria, an inborn error of metabolism, cleaved… (More)
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